ArchiLD: hierarchical visualization of linkage disequilibrium in human populations

PLoS One. 2014 Jan 21;9(1):e86761. doi: 10.1371/journal.pone.0086761. eCollection 2014.

Abstract

Linkage disequilibrium (LD) is an essential metric for selecting single-nucleotide polymorphisms (SNPs) to use in genetic studies and identifying causal variants from significant tag SNPs. The explosion in the number of polymorphisms that can now be genotyped by commercial arrays makes the interpretation of triangular correlation plots, commonly used for visualizing LD, extremely difficult in particular when large genomics regions need to be considered or when SNPs in perfect LD are not adjacent but scattered across a genomic region. We developed ArchiLD, a user-friendly graphical application for the hierarchical visualization of LD in human populations. The software provides a powerful framework for analyzing LD patterns with a particular focus on blocks of SNPs in perfect linkage as defined by r(2). Thanks to its integration with the UCSC Genome Browser, LD plots can be easily overlapped with additional data on regulation, conservation and expression. ArchiLD is an intuitive solution for the visualization of LD across large or highly polymorphic genomic regions. Its ease of use and its integration with the UCSC Genome Browser annotation potential facilitates the interpretation of association results and enables a more informed selection of tag SNPs for genetic studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Linkage / genetics*
  • Genome, Human / genetics
  • Genotype
  • Humans
  • Linkage Disequilibrium / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Software

Grants and funding

This work was funded by the A*STAR/Singapore Immunology Network core grant and the A*STAR Research Attachment Program (ARAP) for the graduate student involved in the project.The funders had no role in software design, software implementation, decision to publish, or preparation of the manuscript.